Christian P. Hamel

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel <i>OPA1</i> mutations

Marc Ferré, Dominique Bonneau, Dan Miléa et al. · Human Mutation · 2009 · 164 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Daniel C. Chung, Mette Bertelsen, Birgit Lorenz et al. · American Journal of Ophthalmology · 2018 · 133 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Bardet-Biedl Syndrome

O. Imhoff, Vincent Marion, Corinne Stoetzel et al. · Clinical Journal of the American Society of Nephrology · 2010 · 128 citations

Life Sciences, Neurology, Human Genetics +1

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal et al. · Archives of Ophthalmology · 2012 · 126 citations

Life Sciences, Genetics, Ophthalmology +12

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

S. Gerber, Majida Charif, Arnaud Chevrollier et al. · Brain · 2017 · 123 citations · Full text

Life Sciences, Genetics, Neuroscience +17